ClinVar Miner

List of variants in gene OTC studied for X-linked disease

Included ClinVar conditions (313):
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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP
NC_000023.11:g.(?_38352331)_(38352793_?)del
NC_000023.11:g.(?_38352331)_(38352793_?)dup
NC_000023.11:g.(?_38367271)_(38367449_?)del
NC_000023.11:g.(?_38381322)_(38413090_?)del
NC_000023.11:g.(?_38401255)_(38401693_?)del
NC_000023.11:g.38369877del
NM_000531.5(OTC):c.-115C>T rs1555971008
NM_000531.5(OTC):c.-116C>T rs1555971006
NM_000531.5(OTC):c.-139A>G rs1555971001
NM_000531.5(OTC):c.-142G>A rs1555971000
NM_000531.5(OTC):c.-157T>G rs1555970997
NM_000531.5(OTC):c.-366A>G rs191615506
NM_000531.6(OTC):c.*105C>T rs1036076773
NM_000531.6(OTC):c.*106G>A rs766318571
NM_000531.6(OTC):c.*175T>C
NM_000531.6(OTC):c.*276A>G rs1016109235
NM_000531.6(OTC):c.-106C>A rs749748052
NM_000531.6(OTC):c.-48G>T rs182454762
NM_000531.6(OTC):c.1009G>T (p.Val337Phe)
NM_000531.6(OTC):c.1015G>A (p.Val339Met)
NM_000531.6(OTC):c.1028C>G (p.Thr343Arg)
NM_000531.6(OTC):c.1033T>C (p.Tyr345His) rs66469337
NM_000531.6(OTC):c.1033T>G (p.Tyr345Asp) rs66469337
NM_000531.6(OTC):c.1052del (p.Lys351fs)
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495
NM_000531.6(OTC):c.116G>A (p.Gly39Asp) rs1602014500
NM_000531.6(OTC):c.116G>C (p.Gly39Ala)
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.122A>G (p.Asp41Gly) rs74518351
NM_000531.6(OTC):c.134T>C (p.Leu45Pro) rs72554312
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158
NM_000531.6(OTC):c.148G>T (p.Gly50Ter) rs67486158
NM_000531.6(OTC):c.154G>A (p.Glu52Lys) rs66521141
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.214G>A (p.Glu72Lys)
NM_000531.6(OTC):c.216+10A>G
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.217-1G>A rs72554327
NM_000531.6(OTC):c.217-2A>G
NM_000531.6(OTC):c.236G>A (p.Gly79Glu) rs72554331
NM_000531.6(OTC):c.254T>C (p.Ile85Thr) rs878853245
NM_000531.6(OTC):c.259G>A (p.Glu87Lys) rs72554338
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.281G>C (p.Arg94Thr) rs72554345
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.6(OTC):c.298+1G>A rs68058881
NM_000531.6(OTC):c.298+2T>G rs1555972538
NM_000531.6(OTC):c.298+2dup rs1555972540
NM_000531.6(OTC):c.298+3_298+6del
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.298G>T (p.Gly100Cys)
NM_000531.6(OTC):c.299-5T>C rs377576551
NM_000531.6(OTC):c.299-8T>A rs73196229
NM_000531.6(OTC):c.307C>T (p.Leu103Phe) rs779154479
NM_000531.6(OTC):c.327T>A (p.Cys109Ter)
NM_000531.6(OTC):c.332T>C (p.Leu111Pro) rs1800324
NM_000531.6(OTC):c.360G>A (p.Val120=) rs768780957
NM_000531.6(OTC):c.372C>T (p.Leu124=) rs201070935
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.6(OTC):c.387-1G>A rs1602029522
NM_000531.6(OTC):c.387-2A>T rs66556380
NM_000531.6(OTC):c.390A>G (p.Val130=) rs149795059
NM_000531.6(OTC):c.403del (p.Ala135fs) rs72556255
NM_000531.6(OTC):c.407A>T (p.Asp136Val) rs72556257
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.421C>T (p.Arg141Ter) rs67960011
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) rs68026851
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402
NM_000531.6(OTC):c.444G>C (p.Leu148Phe) rs66741318
NM_000531.6(OTC):c.452T>C (p.Leu151Pro) rs72556265
NM_000531.6(OTC):c.460G>T (p.Glu154Ter) rs72556267
NM_000531.6(OTC):c.473C>T (p.Pro158Leu)
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) rs72556271
NM_000531.6(OTC):c.484G>A (p.Gly162Arg) rs66626662
NM_000531.6(OTC):c.485G>T (p.Gly162Val)
NM_000531.6(OTC):c.488T>G (p.Leu163Arg)
NM_000531.6(OTC):c.491C>T (p.Ser164Leu) rs72556274
NM_000531.6(OTC):c.493G>C (p.Asp165His) rs72556275
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.506C>T (p.Pro169Leu) rs72556278
NM_000531.6(OTC):c.517C>G (p.Leu173Val) rs1131692152
NM_000531.6(OTC):c.534G>A (p.Thr178=) rs775895740
NM_000531.6(OTC):c.535C>T (p.Leu179Phe)
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.568dup (p.Thr190fs)
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773
NM_000531.6(OTC):c.584G>C (p.Gly195Ala)
NM_000531.6(OTC):c.593A>G (p.Asn198Ser) rs72558403
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.6(OTC):c.614T>A (p.Met205Lys)
NM_000531.6(OTC):c.617T>G (p.Met206Arg) rs72558412
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.6(OTC):c.635G>T (p.Gly212Val)
NM_000531.6(OTC):c.646C>G (p.Gln216Glu) rs72558423
NM_000531.6(OTC):c.652G>C (p.Ala218Pro)
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.717+2T>C rs72558431
NM_000531.6(OTC):c.717+3A>G rs72558432
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) rs66851495
NM_000531.6(OTC):c.718-14T>C rs55722856
NM_000531.6(OTC):c.72_77+18del rs863225061
NM_000531.6(OTC):c.740C>G (p.Thr247Arg)
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.762G>A (p.Ala254=) rs1388386866
NM_000531.6(OTC):c.766G>T (p.Gly256Ter)
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879
NM_000531.6(OTC):c.77+2dup rs1569270890
NM_000531.6(OTC):c.77+5G>C
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.814G>A (p.Glu272Lys)
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.83G>A (p.Gly28Glu)
NM_000531.6(OTC):c.860_861dup (p.Met288fs)
NM_000531.6(OTC):c.867+1126A>G rs1569281032
NM_000531.6(OTC):c.867+35T>G rs62622415
NM_000531.6(OTC):c.896C>T (p.Thr299Ile)
NM_000531.6(OTC):c.912G>T (p.Leu304Phe) rs72558465
NM_000531.6(OTC):c.926_928AAG[1] (p.Glu310del)
NM_000531.6(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_000531.6(OTC):c.944T>A (p.Val315Asp) rs67414444
NM_000531.6(OTC):c.944T>C (p.Val315Ala)
NM_000531.6(OTC):c.946T>G (p.Phe316Val)
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_000531.6(OTC):c.959G>T (p.Arg320Leu) rs72558474
NM_000531.6(OTC):c.961T>C (p.Ser321Pro) rs1569281354
NM_000531.6(OTC):c.974C>T (p.Pro325Leu) rs1602034625
OTC, DEL

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